- Gum disease is a condition in which the tissue around the tooth root becomes swollen and infected. This condition can cause tooth loss if it is not treated. Who gets gum disease and how bad it will be depends on (1) the different bacteria in the mouth and (2) how the immune system of an individual handles these bacteria. Researchers want to look at the oral bacteria and genetic immune problems of different people to learn how these affect gum disease and other conditions of the mouth.

Objectives:

- To study how immune system problems may lead to problems in the mouth, including gum disease.

Eligibility:

Children and adults at least 7 years of age who have genetic problems with their immune system.

Healthy adults that have periodontal disease

Health adults that do not have periodontal disease

Design:

This study will involve a screening visit and a study visit.

Participants will be screened with a medical history, blood work and a full oral and dental exam, including dental x-rays and photos.

The study visit will involve collection of blood, urine, and other samples, including saliva, plaque, and gum swabs. Any abnormal tissue will sampled for a biopsy. Additional oral and dental exams will be performed. Participants will also answer questions about any current medical or dental problems.

Initial data from this study may generate new hypotheses for investigation as part of this study. [ Time Frame: Ongoing ]

Estimated Enrollment:

650

Study Start Date:

March 12, 2012

Detailed Description:

This protocol is a cross sectional study designed to investigate the clinical, microbiologic, and immunologic consequences of immune dysfunction (particularly dysfunction due to primary immune defects) in the oral cavity. The hypothesis is that systemic immune dysfunction, attributed to monogenic immune defects in most of our populations of interest, will lead to alterations in the local immune response and microbial colonization and ultimately predispose to susceptibility to oral infections and inflammatory conditions. Of particular interest to this protocol is the susceptibility of select patient populations with immune dysfunction to periodontal disease. Whereas patients with hyper-immunoglobulin E syndrome (HIES) are an important focus of this research, enrollment will be open to a broader population, including monogenic immune defects such as leukocyte adhesion deficiency-1 (LAD-1), chronic granulomatous disease (CGD), as well as patients with defects in cytokine signaling.

For inclusion in this study, ID subjects must have a current diagnosis of a primary immune defect, and be enrolled in an NIH protocol that is following their medical issues and through which they are required to get a dental consult. Data from the dental consult, collected under the parent protocol, will be analyzed through this protocol to assess the type and extent of oral manifestation in patients with these immune defects. In addition to the information collected as part of the consult, subjects will undergo sampling for oral fluids, microbes, and blood sampling. Each patient subject 18 years of age or older will also undergo an oral biopsy. Systemically healthy volunteer subjects will be screened and classified as with/without periodontitis. Healthy volunteers will be clinically evaluated and enrolled for a single visit, at which they will undergo oral fluid/microbe/tissue/blood sampling/oral biopsy for research purposes.

The primary aim of this protocol is to use modern methodologies to characterize the immune response and microbial colonization in the oral cavity in health and patients with primary immune defects. By particularly studying subjects with monogenic immune defects, we aim to increase the understanding of the role of specific immune molecules and pathways in the balance of host/microbial interactions on mucosal surfaces such as the oral cavity.

Eligibility

Ages Eligible for Study:

7 Years and older (Child, Adult, Senior)

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Criteria

INCLUSION CRITERIA:

Patients with Immune Dysfunction:

-Patients with an established monogenic immune defect will be eligible for screening inclusion under this protocol.

Diagnosis of monogenic immune defect

Greater than or equal to 7 years old

Be concurrently enrolled in a protocol at NIH that is following the medical condition of the patient and under which a dental consult was requested

Large doses of commercial probiotics (greater than or equal to 10(8) colony-forming units or organisms per day); includes tablets, capsules, lozenges, chewing gum, or powders in which a probiotic is a primary component; ordinary dietary components such as fermented beverages/milks, yogurts, and foods do not apply

Have used tobacco products (including e-cigarettes) within 1 year of screening

Unwillingness to consent to oral biopsy

NIH employees working in the Oral Immunity and Inflammation Unit and members of the Clinical Research Core Team will not be eligible for enrollment.

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study.
To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below.
For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01568697